EYS and retinitis pigmentosa: Another example of LRS utility in undiagnosed recessive disorders was provided by Sano et al., 2022, who studied a cohort of 15 patients with retinitis pigmentosa and carriers of pathogenic variants in one allele of the EYS gene: whole-genome LRS was able to detect all the causative SNVs previously identified and two large deletions (376 kb and 395 kb) encompassing the coding sequence of EYS in two patients.